Evidence map›Paper›PMID 39580486›Full record

ArticleScientific data2024

A reference quality, fully annotated diploid genome from a Saudi individual.

Maxat Kulmanov, Rund Tawfiq, Yang Liu, Hatoon Al Ali, Marwa Abdelhakim, Mohammed Alarawi, Hind Aldakhil, Dana Alhattab, Ebtehal A Alsolme, Azza Althagafi and 10 more

Abstract readDataset
In one paragraph

Article in Scientific data, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed.

  1. Review
  2. Navigating the pangenome coordinate system with Shredtools.bioRxiv : the preprint server for biology · 2026
    Article
  3. Article
  4. Review
  5. Article
  6. Article
  7. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

20 authors.

Maxat KulmanovComputational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology, Thuwal, Saudi Arabia.ORCID 0000-0003-1710-1820
Rund TawfiqComputational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology, Thuwal, Saudi Arabia.
Yang LiuComputational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology, Thuwal, Saudi Arabia.
Hatoon Al AliComputational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology, Thuwal, Saudi Arabia.
Marwa AbdelhakimComputational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology, Thuwal, Saudi Arabia.ORCID 0000-0001-6816-2119
Mohammed AlarawiComputational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology, Thuwal, Saudi Arabia.
Hind AldakhilComputational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology, Thuwal, Saudi Arabia.
Dana AlhattabComputational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology, Thuwal, Saudi Arabia.
Ebtehal A AlsolmeGenomic and Precision Medicine Department, King Fahad Medical City, Riyadh, Saudi Arabia.
Azza AlthagafiComputational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology, Thuwal, Saudi Arabia.
Angel AngelovCore Labs, King Abdullah University of Science and Technology (KAUST), 4700 KAUST, 23955, Thuwal, Makkah, Saudi Arabia.
Salim BougouffaComputational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology, Thuwal, Saudi Arabia.ORCID 0000-0001-9218-6452
Patrick DriguezCore Labs, King Abdullah University of Science and Technology (KAUST), 4700 KAUST, 23955, Thuwal, Makkah, Saudi Arabia.
Changsook ParkCore Labs, King Abdullah University of Science and Technology (KAUST), 4700 KAUST, 23955, Thuwal, Makkah, Saudi Arabia.
Alexander PutraCore Labs, King Abdullah University of Science and Technology (KAUST), 4700 KAUST, 23955, Thuwal, Makkah, Saudi Arabia.
Ana M Reyes-RamosCore Labs, King Abdullah University of Science and Technology (KAUST), 4700 KAUST, 23955, Thuwal, Makkah, Saudi Arabia.
Charlotte A E HauserComputational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology, Thuwal, Saudi Arabia.
Ming Sin CheungCore Labs, King Abdullah University of Science and Technology (KAUST), 4700 KAUST, 23955, Thuwal, Makkah, Saudi Arabia.
Malak S Abedalthagafi *Department of Pathology and Laboratory Medicine, Emory School of Medicine, Atlanta, GA, USA. malak.althgafi@emory.edu.ORCID 0000-0003-1786-3366
Robert Hoehndorf *Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology, Thuwal, Saudi Arabia. robert.hoehndorf@kaust.edu.sa.ORCID 0000-0001-8149-5890

Funding

King Abdullah University of Science and Technology (KAUST) REI/1/4789-01-01King Abdullah University of Science and Technology (KAUST) REI/1/4938-01-01King Abdullah University of Science and Technology (KAUST) URF/1/4675-01-01King Abdullah University of Science and Technology (KAUST) URF/1/4697-01-01
6 · The paper itself

Abstract

We have used multiple sequencing approaches to sequence the genome of a volunteer from Saudi Arabia. We use the resulting data to generate a de novo assembly of the genome, and use different computational approaches to refine the assembly. As a consequence, we provide a contiguous assembly of the complete genome of an individual from Saudi Arabia for all chromosomes except chromosome Y, and label this assembly KSA001. We transferred genome annotations from reference genomes to fully annotate KSA001, and we make all primary sequencing data, the assembly, and the genome annotations freely available in public databases using the FAIR data principles. KSA001 is the first telomere-to-telomere-assembled genome from a Saudi individual that is freely available for any purpose.

Indexed as

Genome, HumanDiploidyHumansMolecular Sequence AnnotationSaudi Arabia

Identifiers

PMID39580486
PMCPMC11585617

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.